A8V (p.Ala8Val) variant of HLA-DPB1 (P04440)
A8V (p.Ala8Val) in HLA-DPB1 (P04440) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs1332954676
- gnomAD rs1332954676
- NCI-TCGA Cosmic COSV1013
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0416
- REVEL 0.03
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available